FOXE3

forkhead box E3
OMIM: 601094, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Amber FOXE3 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection Version 0.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Phenotypes Familial thoracic aortic aneurysm and aortic dissection
Green FOXE3 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Phenotypes Anterior segment dysgenesis 2, multiple subtypes 610256
Red FOXE3 in Pneumothorax - familial Level 3: Structural lung disorders Level 2: Respiratory disorders Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources NHS GMS
Green FOXE3 in Bilateral congenital or childhood onset cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Cataract 34, multiple types, OMIM:612968 cataract 34 multiple types, MONDO:0013067 Peter's anomaly microphthalmia.
Green FOXE3 in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.47	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Anterior segment mesenchymal dysgenesis 107250
Amber FOXE3 in Thoracic aortic aneurysm or dissection (GMS) Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber South West GLH London South GLH South West GLH London South GLH Phenotypes Aortic aneurysm, familial thoracic 11, (susceptibility to) 617349
Red FOXE3 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.127	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Literature Phenotypes {Aortic aneurysm, familial thoracic 11, susceptibility to}
Green FOXE3 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256 Cataract 34, multiple types, OMIM:612968 {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS
Green FOXE3 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL PRIMARY APHAKIA 610256 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250
Green FOXE3 in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.51	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256 Ocular anterior segment dysgenesis, HP:0007700
Red FOXE3 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Anterior segment mesenchymal dysgenesis, 107250 Aphakia, congenital primary, 610256
Red FOXE3 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.90 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Eye Disorders
Green FOXE3 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Anterior segment mesenchymal dysgenesis, OMIM:107250 Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256 Tags watchlist_moi
Green FOXE3 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Cataract 34, multiple types, 612968 Anterior segment dysgenesis 2, multiple subtypes, 610256